[Gilbert's syndrome: a clinicogenetic trial].

AIM: To improve diagnosis of Gilbert's syndrome (GS) basing on functional and genetic methods of examination.

MATERIAL AND

METHODS

GS was diagnosed in 88 patients aged 15-72 years using clinical and genetic tests.

RESULTS

Genotyping has detected changes in promotor part of the gene coding uridindiphosphateglucuroniltransferase. In homozygous carriers GS was characterized by a higher baseline level of bilirubin, distinct response to functional tests, frequent combination with essential tremor. In heterozygous patients GS often ran latently.

CONCLUSION

Four variants of GS course were established: dispepsic, asthenovegetative, jaundice, latent. Low-caloric diet followed by fenobarbital raised sensitivity and specificity of the test. A clinical classification of GS is proposed. The detected disorders of antipirin pharmacokinetics allow prognosis of the risk of unwanted reactions to the drugs metabolized by monooxigenases of the liver.